Search

AbstractPlasmablastic lymphoma (PBL) is a rare and relatively new entity originally described in HIV-infected individuals. This subset of Epstein-Barr-virus (EBV)-related non-Hodgkin lymphomas is now regarded as a distinct clinicopathological category of AIDS-associated lymphomas occurring preferentially in the oral cavity and showing a poor prognosis. We describe for the first time an EBV-associated PBL with an isolated cutaneous distribution on the lower extremities in an HIV-infected heterosexual male and point to the unique clinical, morphological and immunophenotypic characteristics of this lymphoma. The patient presented with fast growing solid and livid nodules on both legs. The large, blastic tumor cells showed the following immunophenotype: CD138+, CD45+, CD20–, CD10–, CD3–, CD30–, bcl-2–, bcl-6–, LMP-1– and EMA–. The proliferation fraction (Mib-1) was >90%. EBV association was demonstrated by in situ hybridization (EBV-encoded RNAs 1/2). Polymerase-chain-reaction-based DNA analysis demonstrated a clonal IgH rearrangement in the absence of a bcl-2/IgH translocation. PBL in HIV patients may occur not only in the oral cavity, but can probably involve any other organs including the skin.Copyright © 2004 S. Karger AG, Basel

Background:Scarce data exist concerning dermatological consultations within departments of internal medicine. To date, no survey has been carried out in Switzerland to elucidate this issue. The aim of this study was to analyze the spectrum of skin diseases internists are confronted with and to study their diagnostic accuracy in cutaneous diseases. In addition, we wanted to evaluate the motivation for dermatologists to cooperate closely with internists. Patients and Methods:The study included patients with dermatological problems treated at the Department of Internal Medicine at the Kantonsspital Aarau, Switzerland. All patients had been referred to the Department of Dermatology for examination between 1999 and 2001. Patient data were analyzed demographically, by referral modus, diagnoses and therapy. To evaluate the knowledge of internists and dermatologists in cutaneous medicine, 15 clinical slides of common dermatoses with a patient history were shown and asked for diagnostic suggestions to 32 internists of the Kantonsspital Aarau and to 13 dermatologists of the University Hospital Basel, Switzerland. Results:1,290 patients were referred to the Department of Dermatology. 1,737 dermatological diagnoses were made including 348 different dermatoses. Eczema was the single most common diagnosis (12.6%), followed by actinic and bowenoid precancerosis (6.2%), drug eruption (4.2%), verrucae (4%) and mycosis (3.8%). The top ten diagnoses accounted for 41.7% of all skin-related diagnoses. Infection-related dermatoses were most common (20.5%) followed by different types of eczema (12.6%), malignant cutaneous tumors and malignant visceral conditions (11.2%). Local therapy was prescribed in 64.2% and systemic therapy in 22.6% of the patients. 15.9% did not receive specific therapy because the consultation request was only a diagnostic one. 146 skin biopsies were performed (11.3%). Systemic diseases with cutaneous manifestations accounted for 15.7%. In general, these conditions were not commonly seen by dermatologists in daily practice. The internists recognized 51.1% of the cutaneous manifestations during examination and 49% when presented with slides. Conclusions:Internists are confronted with a different spectrum of cutaneous diseases compared with dermatologists. Due to the broad spectrum of skin diseases, it is a challenging task for internists to recognize dermatoses. Our study elucidates that patients, internists and dermatologists may profit from a close cooperation.

AbstractFor the first time, we describe a case of type 2 segmental Darier disease with concomitant band-like areas of healthy skin. This clinical observation gives a further hint for the understanding of type 2 segmental manifestations in autosomal dominant diseases. We had observed a 17-year-old patient with Darier disease since the age of 13 years. On the frontal aspect of his body, the lesions were found to be diffusely and rather symmetrically disseminated. On the back, however, a band-like pattern of pronounced involvement with concomitant streaks of healthy skin, both following the lines of Blaschko, was noted. Type 2 segmental manifestation of autosomal dominant disorders can be explained by the assumption that the individual carries a germline mutation that gives rise to a diffuse, nonsegmental distribution of the disease. In addition, a postzygotic mutation occurring at an early developmental stage would result in loss of heterozygosity and give rise, in a segmental area, to a homozygous or hemizygous state of the mutation. This would explain the enhanced severity of the segmental lesions. Theoretically, an early event of mitotic recombination should give rise, simultaneously, to a clone of cells that are homozygous for the corresponding wild-type allele, and for this reason paired segmental areas of either excessive or absent involvement, in the form of twin spotting, should occur on the background of an ordinary, nonsegmental phenotype, as exemplified by Happle and König in a case of epidermolytic hyperkeratosis of Brocq. These authors stated that, in autosomal dominant skin disorders, segmental areas of healthy skin will usually be difficult to recognize. This may explain why such a twin spot phenomenon has so far not been encountered in Darier disease.Copyright © 2002 S. Karger AG, Basel

In 1996, English and McCollough described an unusual entity in 2 sisters characterized by a transient and recurrent keratoderma exclusively on the palms after water exposure. The condition developed 3–5 min after exposure to water and resolved within a short time after drying. This finding was associated with a tightening sensation. Yan et al. coined the term ‘aquagenic palmoplantar keratoderma’, and the designation ‘aquagenic syringeal acrokeratoderma’ was suggested by MacCormack et al. Until now, a total of 8 cases have been reported. We documented 2 new cases with acquired aquagenic syringeal acrokeratoderma. A 25-year-old female had observed within the last 3 months a burning sensation on the palms after some minutes of water contact. Physical examination revealed a perfectly normal skin on the palms. Three minutes after water immersion of 20°C, a whitish discoloration appeared on the palms and a thickening of the palmar skin was visible. In addition, the eccrine pores were much more prominent. Few minutes after drying the skin, the situation returned to a normal state. The second patient, a 33-year-old female noticed a painful whitish discoloration of the skin on the palms after a short period of water immersion. Sometimes the white skin could be peeled off. In the last year, hyperhidrosis developed, and a more reddish aspect of the palms appeared. In our office after rinsing the hands with water at room temperature, a whitish discoloration in the center of the palms appeared which was associated with a painful sensation. After drying, the whitish lesions disappeared almost completely within 30 min. Aquagenic palmar keratoderma describes an acquired and transient condition which occurs after brief exposure to water and disappears after drying within minutes to an hour. Only rarely may a slight hyperkeratosis remain for a longer time. The possible pathophysiology and treatment options are discussed.

Eccrine angiomatous hamartoma (EAH) is an exceedingly rare benign tumor-like lesion prevalent in childhood which may produce pain and marked sweating. Although an aggressive treatment is not generally indicated, surgery may be considered in severe cases. In this report we present novel morphological findings by immunophenotyping, document the first MRI findings in EAH and emphasize the importance of preoperative imaging of such lesions.

Darier disease is an autosomal dominant disorder which may occasionally become manifest in a segmental form. Two clinical phenotypes with a different genetic background have been elaborated in recent years. More than 50 patients with isolated linear disease expression have been documented. In this phenotype the skin outside the segmental affection is absolutely normal. Such a phenotype is explained by a postzygotic mutation with somatic mosaicism which was labeled as type 1 manifestation of segmental forms in autosomal skin disorders. A patient with classical type 1 segmental Darier disease is presented. On the other hand, only 3 patients with Darier disease showing a segmental manifestation in combination with a diffuse distribution have so far been observed. These cases correspond to the recently described type 2 manifestation of segmental forms of autosomal dominant disorders. We describe a fourth patient with type 2 segmental Darier disease. The genetic explanation of such a phenotype is possible with the assumption that a germline mutation for the disease exists but, in addition, a postzygotic mutation is needed resulting in loss of heterozygosity. Hence, in a circumscribed region a homozygous or hemizygous state of the mutation is apparent which can explain the enhanced severity of the segmental manifestation.

Besides the inherited forms of mottled and reticulate pigmentation, a vast number of diseases and trigger mechanisms can lead to acquired pigmentation of the neck. Nonhereditary variants of reticulate and mottled pigmentation can affect the neck as a typical site and therefore may give a diagnostic clue or it can occur sporadically on the neck as well as on other sites. A well-known and important factor in the pathogenesis is exposure to sunlight. Sun-induced pigmentation often presents on the neck and may result from phototoxic, photoallergic and cumulative actinic damage. Frequent forms comprise berloque dermatitis, Riehl’s melanosis, poikiloderma of Civatte and tanning bed lentigines. Different infections may also lead to this distinct skin alteration as pediculosis capitis, pityriasis versicolor and syphilis II. Treatment-induced irregular pigmentations may occur after applications of topical agents (e.g. diphenylcyclopropenone), systemic medication (e.g. 5-fluorouracil, chlorpromazine), as a complication of laser resurfacing or as a chronic graft-versus-host reaction. Different neoplasms may also involve the neck. Widespread pigmented basal cell carcinoma, cutaneous T-cell lymphoma, syringolymphoid hyperplasia and histiocytic diseases may lead to reticulated pigmentation. Various other infrequent conditions as connective tissue diseases, malnutrition, lichen planus pigmentosus and others are summarized. The neck, a readily accessible site to medical inspection, may have an underestimated value for the diagnosis of different skin diseases.

Reticulate pigmentation of the neck is a common finding in numerous genodermatoses and acquired diseases. As the neck is readily accessible to medical inspection, it may serve as a diagnostic window for various dermatoses. Several entities out of the spectrum of ectodermal dysplasia present with reticulate or mottled pigmentation on the upper trunk and neck. The most impressive genodermatoses with punctate and reticulate pigmentation affecting the neck are the Naegeli-Franceschetti-Jadassohn syndrome, dermatopathia pigmentosa reticularis and dyskeratosis congenita. Reticulate pigmented anomaly of the flexures and lentiginosis, disorders of cornification and related entities are further genodermatoses which may involve the neck. In our review we have integrated inherited dermatoses which do not obligatorily affect the neck but have been well documented to do so. Our work should give the clinician a checklist on genodermatoses which may produce reticulate and mottled pigmentation on the neck.

We report on a patient with a red-violaceous swelling of her nasal tip which turned out to be a primary metastasis of a cervical carcinoma. Only 2 patients with metastatic lesions in the nose from cervical carcinoma have been reported. The clinical features are presented, and the differential diagnosis is discussed.

Sclerosteosis describes an autosomal recessive form of hyperostosis corticalis generalisata (MIM 239100). Sclerosteosis is primarily a disorder of osteoblast hyperactivity and metabolic abnormalities are not present. Besides generalized bone changes the presence of asymmetric cutaneous syndactyly of the index and middle fingers is characteristic. In many cases this syndactyly is associated with nail dysplasia and therefore dermatologists should recognize this clinical finding as a possible marker of this entity. We report on a 36-year-old female of Greek origin who had had finger and nail dysplasias and facial asymmetry since birth. The patient was hospitalized on the Neurology ward because of increasing spastic and ataxic gait disturbances. Physical examination revealed numerous neurological problems resulting from bony compression of nerves. Furthermore the patient had remarkably deformed fingers with hypoplasia of the second finger on both sides. The nails were dysplastic, especially on both index fingers. All laboratory results concerning metabolic diseases were normal. It has been shown that sclerosteosis is clinically and radiographically very similar to van Buchem disease. Through a genome-wide search with a highly polymorphic microsatellite the gene responsible for van Buchem disease has been mapped to 17q12–q21, and Balemans et al. (1999) assigned the locus for sclerosteosis to the same region providing genetic support for the hypothesis of allelism. Dermatologists should be able to interpret such syndactyly associated with nail deformities as a possible hint for the diagnosis of sclerosteosis in patients with hyperostotic features.

We present a second case of alopecia areata sparing a congenital nevus of the eyebrow. This inverse counterpart of perinevoid alopecia is discussed and placed in context to the recently described Renbök phenomenon. According to the present definition of a nevus as a genetic mosaic, a genetically determined resistance to alopecia areata is suggested in our case.

We describe a rare case of double-lined frontoparietal scleroderma en coup de sabre. The relationship to the distribution following the lines of Blaschko is discussed. In addition, we present a genetic hypothesis which is based on a mosaic state induced by postzygotic mosaicism. A patient with scleroderma en coup de sabre has a mosaic state for genes which predispose to susceptibility for linear scleroderma.